ClinVar Miner

List of variants studied for Retinitis pigmentosa 38 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln) rs147779020 0.00003
NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs) rs1676689811
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2189T>G (p.Met730Arg)
NM_006343.3(MERTK):c.2214del (p.Cys738fs) rs886039422
NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533

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